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- Title
Neural cell recognition molecule L1: relating biological complexity to human disease mutations.
- Authors
Kenwrick, S; Watkins, A; De Angelis, E
- Abstract
Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the founder member of a subfamily of cell adhesion molecules that are primarily expressed in the nervous system, and to date it is the only one to be associated with a hereditary disease. In this review we will summarize how the analysis of pathological mutations in L1 is complementing the study of mouse models and in vitro analysis of L1 function.
- Publication
Human molecular genetics, 2000, Vol 9, Issue 6, p879
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/9.6.879